Results 31 to 40 of about 4,878 (206)
Epidemiology of progressive intellectual and neurological deterioration in UK children
Developmental Medicine &Child Neurology, EarlyView.This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity +3 more
wiley +1 more source
Saudi Journal of Kidney Diseases and Transplantation, 2016 Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the accumulation of the amino-acid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe form of the disorder.
Vaishali More, Preeti Shanbag
doaj +1 more source
Ocular Involvement in Patients with Infantile Nephropathic Cystinosis. [PDF]
Turk J OphthalmolÜzüm S +4 more
europepmc +3 more sources
Pediatrics, 1960 Three cases of cystine storage disease occuring in one family are presented. In all three patients the diagnosis of cystine storage was established in vivo with the demonstration of cystine crystals in aspirated specimens of bone marrow and confirmed by paper chromatography of the urine in the two deceased siblings.
openaire +1 more source
Advanced Materials, Volume 37, Issue 49, December 10, 2025.A schematic illustration of how noble metals can be used to create nanoparticles (NPs) or nanoclusters (NCs). Noble metal NPs, due to their plasmonic properties, enable photothermal therapy and surface‐enhanced Raman scattering (SERS). In contrast, NCs, which lack a plasmonic resonance band, exhibit fluorescence, making them ideal for bioimaging ...
David Esporrín‐Ubieto +3 more
wiley +1 more source
Nefrología (English Edition), 2015 Introduction: Cystinosis is a rare systemic lysosomal storage disease that mainly affects the kidney and the eye. Renal replacement therapy is started in patients with cystinosis during the first decade of life in the absence of treatment.
Gema Ariceta +15 more
doaj +1 more source
The Concise Guide to PHARMACOLOGY 2025/26: Transporters
British Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander +28 more
wiley +1 more source
In Vitro and In Vivo Models to Study Nephropathic Cystinosis
Cells, 2021 The development over the past 50 years of a variety of cell lines and animal models has provided valuable tools to understand the pathophysiology of nephropathic cystinosis. Primary cultures from patient biopsies have been instrumental in determining the
Pang Yuk Cheung +3 more
doaj +1 more source
Revealing VNN1: An Emerging and Promising Target for Inflammation and Redox Balance
Immunity, Inflammation and Disease, Volume 13, Issue 10, October 2025.ABSTRACT Introduction The intricate balance between immunometabolic homeostasis and redox equilibrium is crucial for maintaining health, and its dysregulation is implicated in a wide spectrum of diseases. Vascular non‐inflammatory molecule‐1 (VNN1) is an emerging pantetheinase that sits at the crossroads of inflammation and metabolism, yet a ...
Linxi Lv +7 more
wiley +1 more source
Egyptian Pediatric Association GazetteBackground Cystinosis is an autosomal recessive lysosomal storage disorder caused by cystine crystals accumulation within lysosomes resulting in multi-organ dysfunction.
Rasha Helmy +4 more
doaj +1 more source